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24th March 2016
Call for patient organisations to join E-PAGs

The call for European Reference Networks (ERN) is now open. Newcastle is pulling together an application for a Neuromuscular ERN and we wanted to draw your attention to the EURORDIS Patient Advocacy Groups (E-PAGs).

As you know patient involvement in the development of an ERN is crucial to its success. In advance of ERN’s being officially established later in 2016, EURORDIS has been working with members, and reaching out to non-member patient organisations, to create E-PAGs (EURORDIS Patient Advocacy Groups) aligned with each emerging and established Rare Disease ERN.

The role of E-PAGs includes:

• Ensure care is patient-centred and respects patients’ rights and choice;
• Promote and encourage a patient-centric approach in both delivery of clinical care, service improvement and strategic development and decision-making;
• Ensure transparency in quality of care, safety standards, clinical outcomes and treatment options,
• Ensure all ethical issues and concerns for patients are addressed, balancing patients’ and clinician needs appropriately;
• Ensure feedback and evaluation of patient experience;
• Contribute to the development of patient information, policy, good practice, care pathways and guidelines;
• Ensure the application of personal data rules, compliance of information consent and management of complaints;
• Advise on planning, assessment and evaluation of the ERN; and
• Ensure the needs of all people living with a rare disease are considered and included in the ERN discussions and activities, specific to the scope of their respective ERN.

EURORDIS aims to secure named E-PAG representatives of each E-PAG at the beginning of April. These representatives will support the development of ERN applications, engaging with the wider patient organisations under each thematic grouped area.

We would like to reach out to all of you to:
1. Consider making an application to join the Neuromuscular E-PAG
2. Disseminate this information to other patient organisations and representatives within your country

For further information visit: http://www.eurordis.org/content/epags

Patient organisations can register interest by emailing lenja.wiehe@eurordis.org indicating they wish to be affiliated to the rare neuromuscular diseases ERN.

Quantifying the burden of caregiving in
Duchenne muscular dystrophy
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Duchenne muscular dystrophy (DMD) is a genetically inherited condition which causes muscle weakness in childhood and usually affects boys. Children affected by DMD suffer from a broad spectrum of physical and psychosocial consequences, however until now very little work has been carried out to evaluate the impact of caring for children with DMD. According to a new study carried out by neuromuscular experts from the UK (John Walton Muscular Dystrophy Research Centre), Sweden and the USA, the findings (across all countries) have shown that care givers have a significantly higher risk of depression and anxiety. Primary carers of children affected by DMD are often family members and whilst this experience is often regarded as positive and rewarding, this new piece of research highlights the profound emotional and mental health impact that care givers also face.

Key outcomes from the study which evaluated the mental well-being of 770 carers of DMD patients include:

- 50% of carers reported being moderately or extremely anxious or depressed
- Strong correlation between the mental health of carers and the health and mental status of patients’
- Higher household costs and time devoted to caring increases stress levels in carers

The study calls for increased help to be provided to caregivers and families to help reduce the burden associated with DMD. The provision of resources and health professional support for families and caregivers could help to promote positive physical and emotional wellbeing, and support them as they continue to maintain caregiving.

Link to paper here

Quantifying the burden of caregiving in Duchenne muscular dystrophy

Erik Landfeldt, Peter Lindgren, Christopher F. Bell, Michela Guglieri, Volker Straub, Hanns Lochmüller, Katharine Bushby
Journal of Neurology, pp 1-10 (First online: 10 March 2016)

New paper on dysphagia in DMD
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Many patients with Duchenne muscular dystrophy (DMD) and other neuromuscular diseases may have difficulty swallowing solids, known as 'dysphagia', as a result of progressive weakining of their muscles.

Difficulty swallowing can lead to an increased risk of choking, chest infections and unintentional weight loss, and is therefore concerning for patients and clinicians. However, little advice on how to avoid dysphasia has been available for those with DMD and those treating them.

Recently, a step by step plan to identify and improve swallowing difficulties in DMD patients has been put forward by Michel Toussaint and collegues. Their paper, 'Dysphagia in Duchenne muscular dystrophy: practical recommendations to guide management', suggests a new tool for dysphagia assesment and management in the form of a clinical algorithim based on 30 years of experience treating DMD. Their advice aims to improve the diagnosis of dysphagia in the adult DMD population and proposes practical ways to improve its treatment.

It is hoped that this new plan of care can reduce the problem swallowing poses for ageing patients with DMD.

New potential therapy target for Spinal muscular atrophy
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Neuroscientists have discovered a specific enzyme that plays a critical role in spinal muscular atrophy (SMA) and that suppressing this enzyme's activity, could markedly reduce the disease's severity and improve patients' lifestyles.

"We've identified the enzyme JNK3 as a therapeutic target to treat the symptoms of spinal muscular atrophy," says Laxman Gangwani, Ph.D., an associate professor in the Center of Emphasis in Neuroscience at Texas Tech University Health Sciences Center El Paso (TTUHSC El Paso) who led the research.

In a recent study published in the December 15th issue of Human Molecular Genetics, Dr. Gangwani and his team of researchers at TTUHSC El Paso describe how mice with spinal muscular atrophy saw great improvement when the JNK3 enzyme was genetically inhibited to eliminate its activity.

"We saw less muscle degeneration, more muscle growth and better muscle strength, and improvement in overall movement," says Gangwani. "What's more striking was a four-fold reduction in initial mortality period and a two-fold increase in total lifespan."

The TTUHSC El Paso research team now plans to test pharmacological compounds that can inhibit JNK3 in mice to identify drug compounds that will slow the progression of the disease and reduce the overall burden of this illness in patients. They've also decided to patent their idea of using a JNK3 inhibitor to treat spinal muscular atrophy.A drug that suppresses the activity of JNK3 enzyme in people with SMA could slow the progression and improve the symptoms of the condition. The next step is to test compounds that can block JNK3 in mice to identify potential drugs that could help people with SMA.

Acceleron plans to launch Phase 2 FSHD trial this year
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Cambridge, Massachusetts-based biotech Acceleron Pharma has plans to test its ACE-083 compound in facioscapulohumeral muscular dystrophy (FSHD) patients in a phase 2 clinical trial later this year. The company presented top-line data from a Phase 1 trial in healthy volunteers showing the drug, which is injected into the muscle, was able to increase the size of a patients thigh muscle by up to 14 percent versus placebo. CEO John Knopf described the results as “unprecedented” and said that the company plans to advance ACE-083 into a phase 2 trials in patients with FSHD in mid-2016.

In presentations to investors last year, the company said the drug also holds promise in a variety of other muscle diseases, including Duchenne muscular dystrophy.

Focus On… Annemieke Aartsma-Rus
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In this new feature the newsletter will highlight one of the Executive committee (EC) so that you can get to know them better. We start with the chair Annemieke Aartsma-Rus:

1. Please tell us about your job and research project
At the moment I have two "jobs". The first involves research at Leiden University Medical Center, where my main focus is on developing exon skipping for Duchenne muscular dystrophy (DMD) However, I also work on developing exon skipping for other rare diseases in local, national and international collaborations. Furthermore, I study the pathology of DMD in more detail hoping to find a therapeutic inroad and develop molecular biomarkers for muscle diseases with Pietro Spitali, who also works in my group.

My other role is networking with patients and parents, clinicians, industry and regulators involved in therapy development for DMD, This work is varied and includes translating science into understandable language for patients and parents, discussing challenges for drug development with other academics and patients, but also organizing larger stakeholder meetings such as the EMA hosted workshop. The networking activity happens under the TREAT-NMD umbrella and my visiting professorship to Newcastle University (where I spend 5-6 weeks every year) is very helpful for this.

2. How did you become the Chair of TREAT-NMD and what does the role involve?
I was voted as chair by my fellow executive committee (EC) members. Most of the work involved in running TREAT-NMD is done by the secretariat. As Chair I am copied in on secretariat emails so I know what is happening. Minor things can be dealt with by the Chair and Vice-Chair, more crucial things are discussed with the executive committee. I chair the monthly EC and am currently working with Becca Leary to coordinate updating the workplan. TREAT-NMD has an ‘Action Plan’ focusing on the most crucial networking activities and this is updated every 3 years. At the moment we are actively trying to have an Action Plan not only for DMD and SMA, but for all NMDs.

3. What do you see as the biggest challenge to the Neuromuscular field (in relation to translational research)
Five years ago I would have said ‘to get a drug approved for the Neuromuscular field’. However, now that Translarna has been conditionally approved, I see that the challenges do not stop there, but that there are other things we need to plan for and learn about, such as post marketing surveillance, health technology assessment, marketing, drug access; a new chapter has started, and we need to learn new skills and a new language.

Furthermore, Translarna applies only to a subset of DMD patients, other drugs need to be developed for non-eligible DMD patients, and for patients with other neuromuscular disorders. Without drugs available, we do not have a benchmark of what is ‘good enough’ for different neuromuscular diseases. Also it is impossible to develop therapeutic biomarkers without having a drug that has been used by patients for some years. So actually the challenge has not changed much from 5 years ago.

4. Why is TREAT-NMD so important for the field and why should people become a member?
TREAT-NMD provides the tools needed for drug development and drug testing. This is more boring than research, but I have come to realize over the past years that it is equally essential. Without the tools, it is impossible to perform good preclinical tests and to have good clinical trials. This pertains to many different areas, ranging from access to cell cultures and tissue samples (EuroBioBank) and standardized tests in animal models, to standards of care and outcome measures and registries for patients.

Drug development for NMDs is very challenging and opportunities are few, we really want to have the most optimal clinical trials. Trial size will always be an issue (because NMDs are rare diseases) – however, we want the trials to be as optimal as possible, and give clear results. This is still work in progress, outcome measures in non-ambulant patients are in development, natural history data is still being collected. The work is dynamic and we have to learn new skills all the time. Networking with all the stakeholders will remain crucial – we will all need to work together: patients and parents, industry and academia, regulators and representatives from other competent authorities. Communication will be key.

If you feel all this is important you should become a member of TREAT-NMD, it's free of charge. Members vote for the executive committee members and can also be nominated to become executive committee members themselves. Furthermore, they can help out with topics of their expertise – most of the work in TREAT-NMD is done on a voluntary basis. We need all the help we can get!

5. Tell us something about yourself that not many people will know?
I am quite open so I think most people will be familiar with my peculiarities, e.g. my fondness of helium balloons, dry ice, alpacas, the Big Lebowski, port-wine and chocolate; my collection of giant microbes. My biggest hobby is reading – I probably read about one book per week – I always pack my kindle first when I go traveling!

Registration now open for 'Making Outcomes Work'
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We are delighted to announce that registration for the upcoming stakeholder workshop is now open and a dedicated workshop website is live. Following the successful meeting on exon-skipping therapy development for DMD, held in London in April 2015, this stakeholder workshop will be held at the British Library in London on the 26th May 2016. This follow-up workshop will be organised by SCOPE-DMD and BIOIMAGE-NMD, two FP7 funded projects coordinated by Newcastle University.

The workshop will focus on ongoing activities and advances in outcome measure development, focusing in particular on MRI, upper limb function and molecular biomarkers. Speakers and panel members include leading experts from industry, patient organisations, regulatory authorities and clinicians including Prof. Volker Straub (John Walton Muscular Dystrophy Research Centre, Newcastle, UK), Dr Jon Tinsley (Summit Therapeutics, Oxford, UK) and Dr Diana Ribeiro (Action Duchenne, London, UK).

Registration is now open and further details of the programme and speakers are available.

We look forward to seeing you in May!

Save the date for our next conference
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Following the success of last year's conference in Washington DC, we are delighted to announce that initial planning is now underway for our next conference in 2017.

Dates have been tentatively set for 27-29 Nov 2017 in Freiburg Germany.

Our conferences are a fantastic opportunity for patients, academics, clinicians, patient registry curators and industry representatives, indeed all TREAT-NMD stakeholders, to get together to network, learn and exchange ideas about the latest translational research.

We hope that by giving everyone as much notice as possible we can ensure as many people as possible will be able to attend.

As details become more concrete we will provide further updates via our usual channels.

Please 'save the date' for 27-29 November and we look forward to seeing you in Freiburg in 2017!!!

SMDF Symposium for Duchenne and Becker muscular dystrophy
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SMDF, the Collection Foundation for Muscular Dystrophy Research, is a Swedish non-profit foundation that aims to fund research of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). SMDF disseminates information on rare disease diagnosis and supports families, professionals and others who know and work with people with DMD and BMD.

As part of their work, SMDF organizes a symposium every two years to provide healthcare proffesionals, patients and their families information on the current state of research, treatment programs and other relevant topics. This year's symposium will take place in Gothenburg, Sweden from the 22nd to the 23rd of April at the Lindholmen Conference Center.

Featuring both national and international speakers, topics covered will include cardiac care as well as cognition and behaviour in DMD and BMD. Lectures on the latest research are scheduled for the first day of the symposium, with the following day consisting of group talks on all topics covered, with the speakers themselves involved.

DMD research overview updated in light of DDP Rome meeting
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Following the highly successful and informative meeting in Rome, the Duchenne muscular dystrophy research overview has now been updated to include the latest research results. TREAT-NMD would like to thank DPP Onlus (Italy) for funding TREAT-NMD Chair Annemieke's travel to the meeting.

The aim of this overview is to inform patients and parents about the different therapeutic approaches for Duchenne muscular dystrophy currently under investigation, to describe the advantages and disadvantages of each approach and to list the hurdles that have to be overcome before these approaches can be applied to patients.

The updated research overview can be found here.

Three exciting clinical research associate posts
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The John Walton Muscular Dystrophy Research Centre (JWMDRC) is delighted to be able to announce that they will soon be seeking to recruit three dynamic clinical research associates to join their world class research centre. Based at the JWMDRC, successful applicants will lead on study conduct and will benefit from participating in neuromuscular clinics across the centre. They will also gain exposure to state of the art research capabilities for neuromuscular diseases.

The posts in the fields of Duchenne muscular dystrophy and myotonic dystrophy, which will be advertised shortly, range in length from one to four years. As soon as the posts are open to applications we will make sure details will be available on our website and will notify our followers via Twitter. Further details of these posts along with application information will be included in next month's newsletter.

If you wish to informally discuss any of these exciting opportunities in the meantime, please get in touch using info@treat-nmd.eu or via @treat_nmd.

University of Bern requires Full Professor for Biomedical Research
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The Medical Faculty of the University of Bern is accepting applications for a faculty position at the level of Full Professor (Ordinariat) for Biomedical Research associated with the Directorate of the Department of Biomedical Research starting 1 January 2017.

The Department of Biomedical Research is an institution affiliated with the Medical Faculty of the University of Bern with the task of coordinating and supporting biomedical research and the operation of core facilities.

As Director, the applicant should be a highly qualified scientist and be internationally recognized as a pioneer in the biomedical research field. He/she will be responsible for the organization of research infrastructure affecting all clinics of the Bern University Hospital (Inselspital) and direct the development of core facilities within the department.

The applicant will work with clinical researchers, provide scientific advice to research groups and promote the continued development of junior scientists. The candidate will support the scientific development of the Medical Faculty by conducting his/her own research. A collaboration with the NCCR RNA and Disease Program is desired and preference will be given to candidates with a corresponding research interest.

Further details can be found on the University of Bern website.

Events and opportunities
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Duchenne Parent Project SPAIN

Duchenne Parent Project España es una asociación sin ánimo de lucro creada y dirigida por padres de niños con DMD/DMB. Esta centrada únicamente en esta ...

We want to promote the development of research in the field of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy by funding research projects. Applications, with the respective annexes, shall be submitted by email to research@duchenne-spain.org during the period specified on the website (Closing date is the 30th April at 2pm).

Myotonic Dystrophy Foundation Annual Conference 2016

This year’s MDF Annual Conference will be held from Thursday the 15th to Saturday the 17th of September 2016 in Washington, DC. The program will build on the success of last year’s event, including the popular Research Track featuring panels and presentations from industry and academic investigators on early-stage therapy development efforts and the Hill Day program, where you can meet with and influence congressional leaders about research and care.

Registration opens on April 4th, with further details coming soon.

Myotonic Dystrophy Support Group Conference 2016

Myotonic Dystrophy Support Group is a charity run by volunteers and dedicated to offering the hand of friendship and support to all those affected by Myotonic Dystrophy. MDSG is supported by professional specialist advisers, including in the fields of genetics, neurology, anaesthetics, research and rehabilitation.

Their Annual MDSG Conference will be held at the East Midlands Conference Centre, Nottingham from Friday 24th to Saturday 25th June 2016.

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24th March 2016
TREAT-NMD newsletter - 24th March 2016
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